POSTMORTEM DNA DIAGNOSIS OF FACTOR V LEIDEN IN A NEONATE WITH SYSTEMIC THROMBOSIS AND PROBABLE ANTITHROMBIN DEFICIENCY

    loading  Checking for direct PDF access through Ovid

Abstract

Background

Spontaneous neonatal thrombosis due to heritable gene defects has been reported in the past. A recently discovered defect, the factor V Leiden mutation, is the most frequent inherited risk factor for venous thrombosis.

Case

Factor V Leiden was diagnosed postmortem in a neonate who died from complications of vena caval and aortic thrombosis. Investigation into the family history revealed that the father had a record of multiple thromboses, and blood testing demonstrated that the father had antithrombin deficiency and the mother was heterozygous for factor V Leiden. Although we were unable to demonstrate directly the presence of antithrombin deficiency in the infant, we propose that a combination of the two inherited disorders was likely the cause of fatal neonatal thrombosis.

Conclusion

The present report highlights the importance of a complete prenatal genetic analysis, including factor V Leiden testing and antithrombin measurement in families with a history of thrombotic disorders.

Related Topics

    loading  Loading Related Articles